ClinVar Miner

List of variants reported as likely pathogenic for alpha granule disease

Included ClinVar conditions (4):
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Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00049
NM_015175.3(NBEAL2):c.1860del (p.Ala621fs) rs1235183015 0.00001
NM_015175.3(NBEAL2):c.5497G>A (p.Glu1833Lys) rs1341020147 0.00001
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu) rs749279630 0.00001
NM_001377304.1(GFI1B):c.521C>T (p.Thr174Ile) rs376762177
NM_001377304.1(GFI1B):c.551G>C (p.Arg184Pro) rs570058270
NM_015175.2(NBEAL2):c.6920delG rs948953674
NM_015175.3(NBEAL2):c.1376del (p.Leu459fs) rs2107337553
NM_015175.3(NBEAL2):c.2151G>C (p.Glu717Asp) rs2107346255
NM_015175.3(NBEAL2):c.3773_3774insCAGCGTTCGCCTC (p.Asp1259fs)
NM_015175.3(NBEAL2):c.4371_4375dup (p.Glu1459fs)
NM_015175.3(NBEAL2):c.5125G>T (p.Glu1709Ter)
NM_015175.3(NBEAL2):c.5431_5438del (p.Ala1811fs) rs2107413869
NM_015175.3(NBEAL2):c.5502_5509del (p.Tyr1835fs) rs2107416663
NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr) rs1575619957
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp) rs771025246
NM_015175.3(NBEAL2):c.6239T>A (p.Met2080Lys) rs1339171276
NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln) rs762258197
NM_015175.3(NBEAL2):c.6468T>A (p.Tyr2156Ter) rs2107437335
NM_015175.3(NBEAL2):c.6877G>A (p.Ala2293Thr)
NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser) rs2107445568
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys) rs2037417315
NM_015175.3(NBEAL2):c.7103dup (p.His2368fs) rs2107448208
NM_015175.3(NBEAL2):c.7225-1G>C rs1575628744
NM_015175.3(NBEAL2):c.7284del (p.Asn2428fs) rs2107453711

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